An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016] See more...

Aliases for C2CD6 Gene

Aliases for C2CD6 Gene

  • C2 Calcium Dependent Domain Containing 6 2 3 5
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 11 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 11 2 3
  • Amyotrophic Lateral Sclerosis 2 Chromosome Region Candidate 11 2 3
  • C2 Calcium-Dependent Domain-Containing Protein 6 3 4
  • ALS2CR11 3 4
  • Testicular Tissue Protein Li 16 3

External Ids for C2CD6 Gene

Previous HGNC Symbols for C2CD6 Gene

  • ALS2CR11

Summaries for C2CD6 Gene

Entrez Gene Summary for C2CD6 Gene

  • An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]

GeneCards Summary for C2CD6 Gene

C2CD6 (C2 Calcium Dependent Domain Containing 6) is a Protein Coding gene. Diseases associated with C2CD6 include Lateral Sclerosis and Juvenile Amyotrophic Lateral Sclerosis.

Additional gene information for C2CD6 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C2CD6 Gene

Genomics for C2CD6 Gene

GeneHancer (GH) Regulatory Elements for C2CD6 Gene

Promoters and enhancers for C2CD6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J201619 Promoter/Enhancer 1.2 EPDnew Ensembl CraniofacialAtlas 500.7 +0.1 82 0.6 NRF1 CTCF ZNF639 RAD21 ZBTB33 MAX SMC3 C2CD6 piR-61240-152
GH02J201572 Enhancer 0.9 FANTOM5 Ensembl 29 +45.0 44982 4.4 RCOR1 ZNF592 GTF2A2 SPI1 ZNF513 IRF1 ZNF395 ILK NR2F1 HDAC8 C2CD6 PPIL3 ENSG00000235579 ENO1P4 TMEM237 FLACC1 RNU6-651P CFLAR lnc-STRADB-7 MTND5P31
GH02J201450 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 9.9 +167.1 167138 3.7 EP300 FOXK2 ZBTB40 ZNF217 SIN3A TCF12 POLR2G SP1 NCOR1 PHF8 STRADB HSALNG0021558 TRAK2 lnc-C2CD6-2 CASP8 ORC2 CLK1 NOP58 ENSG00000213090 TMEM237
GH02J201419 Enhancer 1 Ensembl ENCODE 10.8 +196.7 196683 9.4 ZBTB40 ZNF639 REST ZEB1 CTCF ZNF585B ZNF316 NFIC ZBTB17 MAFF ENSG00000202008 CASP8 PPIL3 TRAK2 STRADB C2CD6 ENO1P4 TMEM237 RNU6-651P MTATP6P16
GH02J201579 Enhancer 0.8 Ensembl ENCODE 11.1 +38.7 38682 1.8 TCF12 TCF7 TEAD1 FOXA2 CEBPB FOXP1 BCL6 RARA HMG20A NFIL3 PPIL3 C2CD6 ENO1P4 TMEM237 RNU6-651P MTND5P31 lnc-STRADB-7 piR-48553-172
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C2CD6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C2CD6

Genomic Locations for C2CD6 Gene

Genomic Locations for C2CD6 Gene
chr2:201,487,421-201,619,183
(GRCh38/hg38)
Size:
131,763 bases
Orientation:
Minus strand
chr2:202,352,144-202,483,905
(GRCh37/hg19)
Size:
131,762 bases
Orientation:
Minus strand

Genomic View for C2CD6 Gene

Genes around C2CD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2CD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2CD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2CD6 Gene

Proteins for C2CD6 Gene

  • Protein details for C2CD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53TS8-C2CD6_HUMAN
    Recommended name:
    C2 calcium-dependent domain-containing protein 6
    Protein Accession:
    Q53TS8
    Secondary Accessions:
    • C9IZH7
    • E9PGG4
    • Q8NCN6
    • Q96LN4

    Protein attributes for C2CD6 Gene

    Size:
    623 amino acids
    Molecular mass:
    71159 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C2CD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C2CD6 Gene

Post-translational modifications for C2CD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C2CD6 Gene

Domains & Families for C2CD6 Gene

Gene Families for C2CD6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2CD6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2CD6 Gene

GenScript: Design optimal peptide antigens:
  • Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein (AL2SA_HUMAN)
  • ALS2CR11 protein (Q96Q36_HUMAN)
genes like me logo Genes that share domains with C2CD6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C2CD6 Gene

Function for C2CD6 Gene

Phenotypes From GWAS Catalog for C2CD6 Gene

Gene Ontology (GO) - Molecular Function for C2CD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C2CD6: view
genes like me logo Genes that share phenotypes with C2CD6: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C2CD6 Gene

Localization for C2CD6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C2CD6 gene
Compartment Confidence
nucleus 2
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C2CD6 Gene

Pathways & Interactions for C2CD6 Gene

PathCards logo

SuperPathways for C2CD6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C2CD6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C2CD6 Gene

Drugs & Compounds for C2CD6 Gene

No Compound Related Data Available

Transcripts for C2CD6 Gene

mRNA/cDNA for C2CD6 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2CD6 Gene

No ASD Table

Relevant External Links for C2CD6 Gene

GeneLoc Exon Structure for
C2CD6

Expression for C2CD6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C2CD6

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2CD6 Gene

Orthologs for C2CD6 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C2CD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALS2CR11 31 30
  • 99.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC609039 30
  • 81.58 (n)
-- 31
  • 60 (a)
OneToMany
-- 31
  • 35 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ALS2CR11 31 30
  • 80.55 (n)
OneToOne
mouse
(Mus musculus)
Mammalia LOC102636554 30
  • 73.48 (n)
Als2cr11 31
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALS2CR11 31
  • 56 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALS2CR11 31
  • 46 (a)
OneToOne
Species where no ortholog for C2CD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C2CD6 Gene

ENSEMBL:
Gene Tree for C2CD6 (if available)
TreeFam:
Gene Tree for C2CD6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C2CD6: view image

Paralogs for C2CD6 Gene

No data available for Paralogs for C2CD6 Gene

Variants for C2CD6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C2CD6 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs193920769 Uncertain Significance: Malignant tumor of prostate 201,487,820(-) A/G MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
VAR_035787 A colorectal cancer sample p.Lys123Met
rs10804117 - p.His376Gln

Additional dbSNP identifiers (rs#s) for C2CD6 Gene

Structural Variations from Database of Genomic Variants (DGV) for C2CD6 Gene

Variant ID Type Subtype PubMed ID
esv24012 CNV loss 19812545
esv2658936 CNV deletion 23128226
esv2763059 CNV loss 21179565
esv3575325 CNV gain 25503493
esv3593980 CNV loss 21293372
esv3593981 CNV loss 21293372
nsv3111 CNV insertion 18451855
nsv473607 CNV novel sequence insertion 20440878
nsv477193 CNV novel sequence insertion 20440878
nsv507063 OTHER sequence alteration 20534489

Variation tolerance for C2CD6 Gene

Gene Damage Index Score: 5.13; 69.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2CD6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2CD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2CD6 Gene

Disorders for C2CD6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C2CD6 Gene - From: GeneCards

Disorder Aliases PubMed IDs
lateral sclerosis
  • adult-onset primary lateral sclerosis
juvenile amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis, juvenile
amyotrophic lateral sclerosis 2, juvenile
  • als2
- elite association - COSMIC cancer census association via MalaCards
Search C2CD6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for C2CD6

genes like me logo Genes that share disorders with C2CD6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C2CD6 Gene

Publications for C2CD6 Gene

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S … Ikeda JE (Nature genetics 2001) 2 3 54
  5. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. (PMID: 25168388) Lin WY … Cox A (Human molecular genetics 2015) 3 54

Products for C2CD6 Gene

Sources for C2CD6 Gene